Orthognathic Considerations of Maxillary and Mandibular Asymmetry at Skeletal Maturity in Patients with Cleft Lip and Palate.

BACKGROUND: Improving occlusion and aesthetics is the primary objective of orthognathic surgery for patients with cleft lip and palate (CLP). However, these patients often suffer from horizontal, vertical, and rotational asymmetry in addition to maxillary retrusion. This study aims to describe maxillary and mandibular asymmetry in patients with CLP undergoing orthognathic surgery and analyze its anatomic basis. METHODS: Patients with isolated CLP undergoing CT imaging prior to orthognathic surgery were retrospectively reviewed. Maxillary and mandibular positioning and dimensional symmetry were evaluated. Incidence of clinically significant asymmetry, correlations between areas of asymmetry, and associations with clinical history were analyzed. RESULTS: Fifty-eight patients, with mean age 17 years were analyzed, including 32 patients with unilateral CLP and 26 with bilateral CLP. Twenty (34%) patients demonstrated chin deviation ≥4mm and 21 (36%) had a ≥5% discrepancy in mandibular ramus lengths. Horizontal occlusal plane cant of ≥2° was seen in 20 (34%) maxillae and 28 (48%) mandibles, with dental arch yaw ≥2° noted in 32 (55%) of both maxillae and mandibles. Chin deviation correlated with maxillary cant, discrepancy in ramus length, discrepancy in mandibular body length, and discrepancy in condylar volume (p<0.05). Bilateral and unilateral CLP did not show significantly different asymmetry on any measure (p>0.05). CONCLUSIONS: Both maxillary and mandibular asymmetry is common in skeletally mature patients with CLP and frequently results in notable chin deviation. Preoperative three-dimensional imaging and virtual surgical planning of orthognathic surgery aid in recognition of facial asymmetries and reveal opportunities to optimize results in this population.

Psychosocial Status and Self-Perception in Patients with Cleft Lip and/or Palate.

OBJECTIVE: To describe how the psychosocial status of patients with cleft lip and/or palate (CL/P) relates to patient-reported outcomes (PROs). DESIGN: Cross-sectional retrospective chart review. SETTING: Tertiary care pediatric hospital. PATIENTS/PARTICIPANTS: Patients aged 8 to 29 years attending cleft team evaluations during a 1-year period. MAIN OUTCOME MEASURES: CLEFT-Q. RESULTS: Patients (N = 158) with isolated or syndromic CL/P and mean age 13.4 ± 3.0 years were included. Fifteen (9%) patients had siblings who also had CL/P. Of 104 patients who met with the team psychologist, psychosocial concerns were identified in 49 (47%) patients, including 25 (24%) with Attention-Deficit/Hyperactivity Disorder or behavior concerns, 28 (27%) with anxiety, and 14 (13%) with depression or mood concerns. Younger age and having siblings with cleft were associated with better PROs, while psychosocial concerns were associated with worse PROs on Speech, Psychosocial, and Face Appearance scales. CONCLUSIONS: Patient perception of cleft outcomes is linked to psychosocial factors.

ImageAssist: A Novel Smartphone Application for Standardized Clinical Photography That Implements and Automates American Society of Plastic Surgery/Plastic Surgery Foundation Photographic Guidelines With Background Deletion.

STATEMENT OF THE PROBLEM: Standardized medical photography of the face is a vital part of patient documentation, clinical evaluation, and scholarly dissemination. Because digital photography is a mainstay in clinical care, there is a critical need for an easy-to-use mobile device application that could assist users in taking a standardized clinical photograph. ImageAssist was developed to answer this need. The mobile application is integrated into the electronic medical record (EMR); it implements and automates American Society of Plastic Surgery/Plastic Surgery Research Foundation photographic guidelines with background deletion. INITIAL PRODUCT DEVELOPMENT: A team consisting of a craniofacial plastic surgeon and the Health Information Technology product group developed and implemented the pilot application of ImageAssist. The application launches directly from patients' chart in the mobile version of the EMR, EPIC Haiku (Verona, Wisconsin). Standard views of the face (90-degree, oblique left and right, front and basal view) were built into digital templates and are user selected. Red digital frames overlay the patients' face on the screen and turn green once standardized alignment is achieved, prompting the user to capture. The background is then digitally subtracted to a standard blue, and the photograph is not stored on the user's phone. EARLY USER EXPERIENCE: ImageAssist initial beta user group was limited to 13 providers across dermatology, ENT, and plastic surgery. A mix of physicians, advanced practice providers, and nurses was included to pilot the application in the outpatient clinic setting using Image Assist on their smart phone. After using the app, an internal survey was used to gain feedback on the user experience. In the first 2 years of use, 31 users have taken more than 3400 photographs in more than 800 clinical encounters. Since initial release, automated background deletion also has been functional for any anatomic area. CONCLUSIONS: ImageAssist is a novel smartphone application that standardizes clinical photography and integrated into the EMR, which could save both time and expense for clinicians seeking to take consistent clinical images. Future steps include continued refinement of current image capture functionality and development of a stand-alone mobile device application.

Sociodemographic Factors Predict Long-Term Attrition from Multidisciplinary Cleft Clinic.

OBJECTIVE: Identify and describe factors associated with retention and attrition of patients during longitudinal follow-up at multidisciplinary cleft clinic. DESIGN: Retrospective cohort study. SETTING: Single, tertiary care center. PATIENTS, PARTICIPANTS: Patients born between 1995 and 2007 with a diagnosis of cleft palate with or without cleft lip attending multidisciplinary cleft clinic. INTERVENTIONS: None tested, observational study. MAIN OUTCOME MEASURE(S): Age at last clinical appointment with a multidisciplinary cleft team provider. Attrition was defined as absence of an outpatient appointment following 15 years of age. RESULTS: Six hundred seventy-eight patients were included. The average age at last appointment across the entire cohort was 13.1 years (IQR 6.6-17.2). Patients who were Black (HR 1.60, 95% CI 1.10-2.32, p = 0.014) and other races (HR 1.90, 95% CI 1.22-2.98, p = 0.004) were more likely to be lost to follow-up compared to white patients. Publicly insured patients were more likely to experience attrition than those who were privately insured (HR 1.30, 95% CI 1.03-1.65, p = 0.030). Estimated income was not significantly associated with length of follow-up (p = 0.259). Those whose residence was in the fourth quartile of driving distance from our center experienced loss to follow-up significantly more than those who lived the closest (HR 2.04, 95% CI 1.50-2.78, p < 0.001). CONCLUSIONS: There is a high degree of follow-up attrition among patients with cleft lip and palate. Race, insurance status, and driving distance to our center were associated with attrition in a large, retrospective cohort of patients who have reached the age of cleft clinic graduation.

Putting our heads together: The future of craniopagus twin separation.

Computer-assisted design and computer-assisted modeling (CAD/CAM), virtual surgical planning (VSP) and augmented/virtual reality (AR/VR) aid our ability to plan and perform complex craniofacial procedures. This study seeks to define the role of the aforementioned techniques in the separation of craniopagus conjoined twins. Six teams were identified who had successfully performed craniopagus twin separation with the use of CAD/CAM, VSP and/or AR/VR. Surgeons involved in separating craniopagus twins have increasingly utilized tools such as CAD/CAM models, VSP and AR/VR to plan and execute successful separation, and these tools are associated with higher success rates than historical controls.

Long-Term Orbito-ocular Outcomes Following LeFort III and Monobloc Distraction Osteogenesis in Patients with Syndromic Craniosynostosis.

INTRODUCTION: Exorbitism in patients with syndromic craniosynostosis is often managed by LeFort III (LF3) or Monobloc (MB) distraction osteogenesis (DO). This study compared short- and long-term orbital craniometrics after LF3DO/MBDO and related these findings to symptom relief. METHODS: Patients undergoing LF3DO or MBDO from 2000-2021 with pre- and postoperative imaging were included. Postoperative CTs were categorized as early (<1 year) or late (>1 year), and age-matched control CTs were compared to late postoperative scans. Superior/inferior orbital rim position, relative globe position, and orbital volume were analyzed. Symptoms were assessed by a patient-reported outcome (PRO) analysis. RESULTS: Thirty-four patients (16 LF3DO, 18 MBDO) were matched by age at surgery, sex, syndrome, and age at imaging. Time to late CT was 6.2 years (LF3DO) and 7.5 years (MBDO). Between early and late postoperative time points, LF3DO patients experienced no change in inferior rim position. MBDO patients experienced a decrease in inferior orbital rim position of 4.7mm (p=0.005), but superior orbital rim distance remained stable. Comparison of late scans and age-matched controls revealed no difference in inferior or superior orbital rim position in LF3DO patients, but the superior orbital rim distance was longer in MBDO patients (p=0.015). PRO response rate was 76% with a median follow up of 13.7 years. Most (81%) symptomatic patients improved, 19% remained symptomatic, and no patients worsened. CONCLUSIONS: LF3DO and MBDO achieved stable orbital craniometric changes, with improved stability at the inferior orbital rim after LF3DO. Craniometric changes were associated with long-term exorbitism symptom relief.

Severity of Mandibular Dysmorphology in Treacher Collins Syndrome for Stratification of Perioperative Airway Risk.

BACKGROUND: Patients with Treacher Collins syndrome (TCS) and attendant airway dysmorphology may be predisposed to airway complications in the perioperative period. However, limited data correlates severity of mandibular hypoplasia and airway status. This study aims to improve risk stratification for perioperative airway insufficiency in TCS by using a previously proposed mandibular severity index. METHODS: Patient demographics, perioperative airway status, difficulty of intubation, and Cormack Lehane grade were collected and compared using a TCS mandibular hypoplasia severity grading scale in patients with TCS treated between 2000 and 2022. RESULTS: Twenty-six patients underwent 222 procedures with institutional mandibular severity gradings as follows: 23% Grade I, 31% Grade II, 39% Grade III, 8% Grade IV. Our severity index was associated with intubation difficulty ( P <0.001) and difficult airway status ( P <0.001), with 72% of difficult airways found in grade III and grade IV patients. Mandibular retrusion and ramal hypoplasia subscores were positively correlated with measures of airway severity ( P <0.001), whereas the gonial angle was negatively correlated ( P <0.001). Age was negatively correlated with difficult visualization for endotracheal intubation ( P =0.02) but had no association with difficult airway status ( P =0.2). CONCLUSIONS: This study found a positive correlation between severity of maxillomandibular dysmorphology and perioperative airway difficulty in TCS patients. Our findings suggest that severely affected patients require heightened vigilance throughout life, as difficult airways may not completely resolve with aging. Given the risk of morbidity and mortality associated with airway complications, proper identification and preparation for challenging airways is critical for TCS patients.

Pharyngeal Airway Changes Following Mandibular Distraction Osteogenesis as Evaluated with Laryngoscopy.

PURPOSE: Mandibular distraction osteogenesis (MDO) may improve airway grade in patients with Robin Sequence (RS), but little is known about the response of the oropharyngeal airway to the distraction process in cases of tongue base obstruction (TBAO). This study used drug-induced sleep endoscopy (DISE) to evaluate the impact of MDO on the oropharynx. METHODS: RS patients with severe obstructive sleep apnea (OSA) were prospectively enrolled, and underwent DISE prior to MDO, and at the time of distractor removal. Laryngoscopy views, glossoptosis degree, polysomnography (PSG) results, oxygen saturations and airway measurements were compared pre- and post-MDO. RESULTS: Twenty patients met inclusion criteria. At the time of distractor placement, a grade II laryngoscopic view was most frequently observed (63%), and one patient (5%) had a grade I view. Median obstructive apnea hypopnea index (OAHI) improved after MDO (49.1 [30.2-74.0] to 9.1, [3.9-18.0], p ≤ .001). Median oxygen saturation nadir also improved (preoperative 69% [60-76] to 85% [82-91], p ≤ .001). At distractor removal, mean laryngoscopic view improved (p ≤ .002) with no views that were grade 3 or higher. Median intraoperative oropharyngeal width improved, (3.1 mm [2.8-4.4] to 6.0 mm [4.4-6.8], p ≤ .021), as did median cephalometric anteroposterior oropharyngeal width (3.5 mm [2.7-4.1] to 6.3 mm [5.6-8.2], p ≤ .002). CONCLUSION: Following MDO, RS patients with TBAO have an approximate doubling of oropharyngeal width and an improvement in laryngoscopic grade. These findings likely contribute to improved oxygenation, OAHI and ease of intubation.

(Epi)genotype and Timing of Tongue Reduction Predict Safety and Long-Term Outcomes in Beckwith-Wiedemann Syndrome.

INTRODUCTION: Macroglossia is a cardinal feature of Beckwith-Wiedemann syndrome (BWS) with a clinical spectrum where the indication and timing for surgery remain to be validated. This study leverages a cohort of molecularly characterized patients with BWS to correlate epigenetic diagnosis with phenotype and treatment outcome. METHODS: Patients with BWS seen in consultation for macroglossia from 2009-2022 were reviewed for phenotype, molecular diagnosis, tongue reduction status, timing of surgery (early = under 12 months), and perioperative complications. RESULTS: Two hundred thirty-seven patients were included. Imprinting control region 2 loss of methylation (IC2 LOM) was the most common epigenotype (61%). Paternal uniparental isodisomy for chromosome 11 (pUPD11) comprised a larger proportion of patients undergoing tongue reduction (18%) than those not undergoing surgery (8%, p = 0.024) and was associated with need for repeat surgery (OR 4.49, 95% CI 1.06-18.98, p = 0.041). Complications including wound dehiscence, ventilator associated pneumonia, and unplanned extubation were more common in patients undergoing early surgery (20%) than late surgery (4%, OR 5.70, 95% CI 1.14-28.55, p = 0.034). CONCLUSIONS: This study presents one of the largest cohorts correlating molecular diagnosis with clinical course of macroglossia treatment in BWS. Macroglossia in patients with pUPD11 is associated with higher rates of reoperation. Relief of obstructive sleep apnea with early tongue reduction must be weighed against risk of perioperative complications, most of which are non-surgical. This study highlights how molecular diagnosis advances clinical care by risk stratifying clinical outcomes in a center providing integrated multidisciplinary care for the BWS population.

How does CLEFT-Q change the way we practice? A prospective study integrating patient-reported outcomes.

OBJECTIVE: The CLEFT-Q is a validated instrument designed to elicit patient-reported outcomes among people affected by cleft lip and/or palate. However, it has not been reported how use of CLEFT-Q data alters routine cleft care. This study analyzed the impact of CLEFT-Q data integration on patient care and clinical decision making. METHODS: Patients were sequentially, prospectively evaluated during scheduled cleft team visits. The CLEFT-Q was completed prior to the clinic encounter but results were initially masked from the surgeon and family. In the encounter, a study observer characterized patients' verbalized attitudes across seven specific domains of appearance and function and the provisional assessment and plan was noted. CLEFT-Q data was then introduced in the clinical encounter and discussed. Discordance between patients' initially verbalized attitudes and their self-reported scores on the CLEFT-Q was documented along with any resultant modifications to their care plan. RESULTS: Seventy patient visits were observed; mean patient age was 12.7 years (range 8-19). Forty-one patients (59%) had cleft lip and palate/alveolus and 29 (41%) had isolated cleft palate. Discordance was observed in 36% of visits and in 9.2% of specific domains assessed. Highest discordance rates were observed in domains of psychosocial function (12.5%,) speech function/distress (11.6%,) and lips/lip scar appearance (11.6%). No age group or gender was associated with increased discordance. Integration of CLEFT-Q results altered the assessment and plan in 11 (16%) visits. CONCLUSIONS: The CLEFT-Q provides clinically-relevant insight into patient perspectives that are not captured by routine interview and examination alone, and regularly leads to a change in the management plan.

Genetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology and Early Upper Airway Obstruction.

BACKGROUND: Apert syndrome is predominantly caused by 2 paternally inherited gain-of-function mutations in the FGFR2 gene, Pro253Arg, and Ser252Trp. Studies comparing phenotypic features between these 2 mutations have established differences in syndactyly severity and incidence of cleft palate. Obstructive sleep apnea can be debilitating in a subset of patients with Apert syndrome, yet is not well understood. This study aims to determine whether FGFR2 mutations impart differential effects on airway physiology and morphology. METHODS: Patients with Apert syndrome and confirmatory molecular testing were reviewed for polysomnography, nasal endoscopy, microlaryngoscopy and bronchoscopy, and computed tomography imaging. Obstructive apnea-hypopnea index and oxygen saturation nadir, nasal airway volumes, choanal cross-sectional area, and midfacial cephalometric dimensions were compared across mutation types. RESULTS: Twenty-four patients (13 Ser252Trp, 11 Pro253Arg) were included. Severe obstructive sleep apnea (obstructive apnea-hypopnea index>10) occurred in 8 (62%) patients with Ser252Trp mutations compared with 1 (9%) patient with Pro253Arg mutations ( P =0.009). Computed tomography imaging at 1 year of age demonstrated that nasopharyngeal airway volumes were 5302±1076 mm 3 in the Ser252Trp group and 6832±1414 mm 3 in the Pro253Arg group ( P =0.041). Maxillary length (anterior nasal spine-posterior nasal spine, P =0.026) and basion-anterior nasal spine ( P =0.007) were shorter in patients with Ser252Trp mutations. CONCLUSIONS: The findings suggest that the Ser252Trp mutation in Apert syndrome is associated with higher severity obstructive sleep apnea and decreased nasopharyngeal airway volume. Heightened clinical awareness of these associations may inform treatment planning and family counseling.

Associations between the timing of tongue reduction surgery, (Epi)genotype, and dentoskeletal development in patients with Beckwith-Wiedemann syndrome.

Tongue reduction surgery is often pursued to manage the adverse effects of macroglossia in patients with Beckwith-Wiedemann syndrome (BWS). This study characterized dental outcomes in patients with BWS based on surgical timing and molecular diagnosis. A retrospective study was designed to include patients with BWS over the age of two who had clinical or radiographic documentation of dental development. Patients were grouped by history of tongue reduction surgery and surgical timing (early: <12 months). One hundred three patients were included (55 no tongue reduction, 18 early, 30 late). Patients who underwent late surgery had lower odds of class I occlusion (OR 0.11, 95% CI 0.02-0.58, p = 0.009) and higher odds of anterior open bite (OR 7.5, 95% CI 1.14-49.4, p = 0.036). Patients with clinical diagnoses and negative molecular testing had anterior open bite less frequently than patients with imprinting center 2 loss of methylation and paternal uniparental isodisomy of 11p15.5 (p = 0.009). Compared to reference values, patients who had tongue reductions had an increased mandibular plane angle (32.0 ± 4.5° versus 36.9 ± 5.0°, p = 0.001), indicative of hyperdivergent growth. The results of this study help to understand the complex nature of dentoskeletal growth in BWS and shed insight on how surgical timing and molecular diagnosis influence prognosis.

Long-Term Patient-Reported Outcomes in Internationally Adopted Children with Cleft Lip and Palate.

OBJECTIVE: To compare patient-reported outcomes (PROs) in internationally adopted patients with cleft lip and palate to those in non-adopted peers. DESIGN: Cross-sectional study. SETTING: Multidisciplinary cleft team at tertiary care hospital. PATIENTS: Patients aged ≥ 8 with cleft lip and palate attending routine cleft team evaluations September 2021 - September 2022. MAIN OUTCOME MEASURE: CLEFT-Q PRO scores. RESULTS: Sixty-four internationally adopted patients and 113 non-adopted patients with a mean age of 13 years were included. Compared to non-adopted peers, adopted patients demonstrated worse satisfaction with face appearance (mean 59 vs. 66, p = .044), speech function (mean 69 vs. 78, p = .005), and speech distress (mean 80 vs. 84, p = .032). No significant differences were observed on the nose, nostrils, teeth, lips, lip scar, jaws, psychological function, or social function scales (p > .05). Objective clinical evaluation corroborated these findings, with adopted patients demonstrating worse Pittsburgh Weighted Speech scores (mean 3.0 vs 1.9, p = .027) and greater incidence of articulation errors (64% vs 46%, p = .021). No significant differences were observed in rates of mood, anxiety, or behavior concerns identified on psychosocial assessment (p = .764). Among adopted patients, undergoing palatoplasty prior to adoption was associated with worse satisfaction with speech, appearance, school, and social function (p < .05). CONCLUSIONS: Patient-reported outcomes among internationally adopted adolescents and young adults with cleft lip and palate show slightly lower satisfaction with facial appearance and speech but otherwise demonstrate similar results to non-adopted peers on most appearance and psychosocial measures. PRO data correlated well with objective speech assessment and did not portend worse psychosocial function.

Radiographic Evidence of Dental Complications Following Mandibular Distraction Osteogenesis: Inverted-L versus Oblique Osteotomy.

INTRODUCTION: Patients with micrognathia undergoing mandibular distraction osteogenesis (MDO) for functional and aesthetic improvement are at significant risk for dental complications. This study investigates association of two osteotomy patterns-oblique and inverted-L-with risk to developing dentition. METHODS: Our senior orthodontist performed a retrospective review of dental radiographs of patients undergoing MDO with confirmed oblique or inverted-L osteotomies between 2012 and 2022. Images were assessed for evidence of missing, damaged, or displaced teeth, and proportion of affected hemimandibles by injury type and median number of affected teeth per hemimandible were compared between groups using appropriate statistical methodology. RESULTS: Analysis included 44 patients (23 oblique, 21 inverted-L) and 85 hemimandibles (45 and 40). Mean age at surgery was 3.1±4.6 years, and mean time to imaging was 4.9±4.1 years; there was no difference between groups (p=0.23, p=0.34, respectively). Oblique osteotomy was associated with greater odds of missing teeth (OR 13.3, p<0.001), damaged teeth (OR 3.2, p=0.02), and any dental injury (OR 39.9, p<0.001) compared to inverted-L, as well as greater number of missing teeth (ß=0.6, p<0.01), damaged teeth (ß=0.3, p=0.02), and total number of affected teeth (ß=0.9, p<0.001). There was no difference in incidence (p=0.5) or number (p=0.4) of displaced teeth between groups. CONCLUSION: Inverted-L osteotomies were associated with fewer dental complications as compared to oblique osteotomy at all ages studied. While longer-term follow up and prospective data are needed prior to making definitive recommendations, this data is helpful to surgeons as they plan MDO.

Associations Between Medicaid Expansion and Timely Repair of Cleft Lip and Palate.

The expansion of Medicaid under the Affordable Care Act (ACA) increased access to health care for many low-income children. However, the impact of this expansion on the timing of primary cleft lip and palate repair remains unclear. This study aimed to evaluate whether Medicaid expansion improved access to timely cleft lip and palate repair and whether it reduced preexisting ethnoracial disparities. Using a quasi-experimental design, the study analyzed data from 44 pediatric surgical centers across the United States. The results showed that Medicaid expansion was associated with a 9.0 percentage-point increase in delayed cleft lip repairs, resulting in an average delay of 16 days. Non-White patients were disproportionately affected by this delay, experiencing a 14.8 percentage-point increase compared with a 4.9 percentage-point increase for White patients. In contrast, Medicaid expansion had no significant effect on the timing of palate repair or on ethnoracial disparities in palate repair. The study underscores the importance of monitoring unintended consequences of large-scale health system changes, especially those affecting disadvantaged populations. Delayed cleft lip repair can lead to worse outcomes for patients, and the disproportionate impact on non-White patients is concerning. Further research is needed to identify the reasons for this delay and to mitigate its effects. Overall, the study highlights the need for ongoing vigilance to ensure that health care policies and interventions do not inadvertently worsen health disparities.

Oxycephaly-systematic review, case presentation, and diagnostic clarification.

PURPOSE: Oxycephaly is a specific phenotype of multi-suture craniosynostosis that is often misrepresented. This study aims to review the relevant literature, clarify the diagnostic criteria, and present an alternate approach to its management. METHODS: Published literature regarding oxycephaly was reviewed from 1997, when the largest series was published, until 2022. All cases at a single institution were then retrospectively reviewed. RESULTS: Over the last 25 years, four studies met the inclusion criteria, none of which specifically defined oxycephaly. One case, in one study, was potentially consistent with the phenotype. An institutional review yielded two patients who met the original diagnostic criteria set forth by Renier and Marchac. Both patients had unexplained speech delays, mild retinal nerve fiber layer thickening, and diffuse inner table scalloping, along with the characteristic oxycephalic phenotype. One patient also had a direct intracranial pressure (ICP) measurement of 25 mmHg, and the other had a Chiari I malformation. Both were treated with posterior vault distraction osteogenesis (PVDO) to alleviate the cephalo-cranial disproportion while simultaneously allowing for turricephaly correction. CONCLUSIONS: Oxycephaly presents with late onset multi-suture fusion. Patients have patent sutures at birth. Midface hypoplasia and known syndromic associations are absent. Patients demonstrate supraorbital recession, an obtuse fronto-nasal angle, and turricephaly without substantial brachycephaly. Over 60% of patients have symptomatic ICP elevation, the presentation of which ranges from headaches to rapidly progressive blindness. This rare form of craniosynostosis is particularly virulent and likely often missed due to diagnostic ambiguity and its relatively mild phenotype.